ADGRG5
gene geneOn this page
Also known as PGR27
Summary
ADGRG5 (adhesion G protein-coupled receptor G5, HGNC:19010) is a protein-coding gene on chromosome 16q21, encoding Adhesion G-protein coupled receptor G5 (Q8IZF4). Orphan adhesion G-protein coupled receptor (aGPCR).
This gene encodes a member of the adhesion family of G-protein coupled receptors. Members of this family are characterized by long N-termini and multiple functional domains. They may play a role in the immune system as well as in the central nervous system. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 221188 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 112 total
- Druggable target: yes
- MANE Select transcript:
NM_001304376
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19010 |
| Approved symbol | ADGRG5 |
| Name | adhesion G protein-coupled receptor G5 |
| Location | 16q21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PGR27 |
| Ensembl gene | ENSG00000159618 |
| Ensembl biotype | protein_coding |
| OMIM | 616965 |
| Entrez | 221188 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000340339, ENST00000349457, ENST00000394361, ENST00000564607, ENST00000564983, ENST00000569839, ENST00000615867, ENST00000897109
RefSeq mRNA: 3 — MANE Select: NM_001304376
NM_001304376, NM_001318481, NM_153837
CCDS: CCDS10785
Canonical transcript exons
ENST00000349457 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002603680 | 57575438 | 57577189 |
| ENSE00002615744 | 57542643 | 57542701 |
| ENSE00003493065 | 57562384 | 57562459 |
| ENSE00003506551 | 57563091 | 57563247 |
| ENSE00003531290 | 57566599 | 57566751 |
| ENSE00003570835 | 57565034 | 57565150 |
| ENSE00003603608 | 57567470 | 57567591 |
| ENSE00003617022 | 57563848 | 57563979 |
| ENSE00003623453 | 57567856 | 57568124 |
| ENSE00003679996 | 57562056 | 57562157 |
| ENSE00003680329 | 57574815 | 57575092 |
| ENSE00003693458 | 57570418 | 57570535 |
Expression profiles
Bgee: expression breadth ubiquitous, 152 present calls, max score 92.24.
FANTOM5 (CAGE): breadth broad, TPM avg 3.1848 / max 253.7774, expressed in 261 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154379 | 2.9651 | 253 |
| 154380 | 0.2197 | 88 |
Top tissues by expression
239 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 92.24 | gold quality |
| lymph node | UBERON:0000029 | 79.44 | gold quality |
| blood | UBERON:0000178 | 79.36 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.74 | gold quality |
| islet of Langerhans | UBERON:0000006 | 78.19 | gold quality |
| spleen | UBERON:0002106 | 77.90 | gold quality |
| bone marrow cell | CL:0002092 | 77.46 | gold quality |
| vermiform appendix | UBERON:0001154 | 76.13 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 71.35 | silver quality |
| leukocyte | CL:0000738 | 71.11 | gold quality |
| tonsil | UBERON:0002372 | 70.53 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 69.63 | gold quality |
| monocyte | CL:0000576 | 69.56 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 69.40 | gold quality |
| duodenum | UBERON:0002114 | 69.32 | gold quality |
| gall bladder | UBERON:0002110 | 69.31 | gold quality |
| caecum | UBERON:0001153 | 68.43 | gold quality |
| jejunal mucosa | UBERON:0000399 | 67.41 | silver quality |
| palpebral conjunctiva | UBERON:0001812 | 67.31 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 67.29 | gold quality |
| body of stomach | UBERON:0001161 | 67.22 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 66.35 | gold quality |
| small intestine | UBERON:0002108 | 66.16 | gold quality |
| pancreas | UBERON:0001264 | 66.09 | gold quality |
| stomach | UBERON:0000945 | 65.84 | gold quality |
| bone marrow | UBERON:0002371 | 65.67 | gold quality |
| rectum | UBERON:0001052 | 64.33 | gold quality |
| buccal mucosa cell | CL:0002336 | 63.01 | gold quality |
| colonic epithelium | UBERON:0000397 | 61.56 | gold quality |
| fundus of stomach | UBERON:0001160 | 61.41 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9067 | yes | 12.95 |
| E-ENAD-27 | yes | 8.52 |
| E-ANND-3 | yes | 7.70 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
43 targeting ADGRG5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-3663-3P | 99.84 | 70.39 | 798 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-10393-5P | 99.65 | 68.01 | 1368 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-4452 | 99.50 | 68.45 | 1493 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-4677-3P | 99.49 | 67.91 | 1246 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-6878-3P | 99.24 | 64.23 | 920 |
| HSA-MIR-6744-3P | 99.22 | 64.41 | 972 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-4757-5P | 99.12 | 64.51 | 981 |
| HSA-MIR-4254 | 99.11 | 65.15 | 1315 |
| HSA-MIR-485-5P | 99.10 | 64.78 | 1889 |
| HSA-MIR-6884-5P | 99.10 | 64.50 | 1987 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-4478 | 99.07 | 65.16 | 2320 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-1207-3P | 98.99 | 66.22 | 1532 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-4297 | 98.77 | 66.95 | 2013 |
| HSA-MIR-548Q | 98.71 | 65.35 | 563 |
| HSA-MIR-7155-5P | 98.65 | 66.14 | 1290 |
| HSA-MIR-6754-5P | 98.60 | 65.54 | 1627 |
| HSA-MIR-4726-3P | 98.49 | 63.89 | 1385 |
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Adgrg5 | ENSMUSG00000061577 |
| rattus_norvegicus | Adgrg5 | ENSRNOG00000039891 |
Paralogs (42): CALCR (ENSG00000004948), GIPR (ENSG00000010310), ADGRA2 (ENSG00000020181), CALCRL (ENSG00000064989), GLP2R (ENSG00000065325), ADGRF5 (ENSG00000069122), ADGRL1 (ENSG00000072071), ADCYAP1R1 (ENSG00000078549), SCTR (ENSG00000080293), VIPR2 (ENSG00000106018), CRHR2 (ENSG00000106113), GHRHR (ENSG00000106128), ADGRD1 (ENSG00000111452), GLP1R (ENSG00000112164), ADGRG6 (ENSG00000112414), VIPR1 (ENSG00000114812), ADGRL2 (ENSG00000117114), CRHR1 (ENSG00000120088), ADGRB2 (ENSG00000121753), ADGRE5 (ENSG00000123146), ADGRE2 (ENSG00000127507), ADGRE3 (ENSG00000131355), ADGRB3 (ENSG00000135298), PTH2R (ENSG00000144407), ADGRG7 (ENSG00000144820), ADGRL3 (ENSG00000150471), ADGRA3 (ENSG00000152990), ADGRF1 (ENSG00000153292), ADGRF4 (ENSG00000153294), ADGRG4 (ENSG00000156920), PTH1R (ENSG00000160801), ADGRL4 (ENSG00000162618), EVA1C (ENSG00000166979), ADGRF3 (ENSG00000173567), ADGRG2 (ENSG00000173698), ADGRE1 (ENSG00000174837), ADGRD2 (ENSG00000180264), ADGRB1 (ENSG00000181790), ADGRG3 (ENSG00000182885), ADGRA1 (ENSG00000197177)
Protein
Protein identifiers
Adhesion G-protein coupled receptor G5 — Q8IZF4 (reviewed: Q8IZF4)
Alternative names: G-protein coupled receptor 114, G-protein coupled receptor PGR27
All UniProt accessions (2): Q8IZF4, A0A087WZA0
UniProt curated annotations — full annotation on UniProt →
Function. Orphan adhesion G-protein coupled receptor (aGPCR). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase. ADGRG5 is specifically coupled to G(s) G proteins and mediates activation of adenylate cyclase activity.
Subunit / interactions. Heterodimer of 2 chains generated by proteolytic processing; the large extracellular N-terminal fragment and the membrane-bound C-terminal fragment predominantly remain associated and non-covalently linked.
Subcellular location. Cell membrane.
Tissue specificity. Expressed in immune cells. Primarily found in granulocytes. Found in eosinophils.
Post-translational modifications. Autoproteolytically processed at the GPS region of the GAIN-B domain; this cleavage modulates receptor activity. N-glycsylated.
Activity regulation. Forms a heterodimer of 2 chains generated by proteolytic processing that remain associated through non-covalent interactions mediated by the GAIN-B domain. In the inactivated receptor, the Stachel sequence (also named stalk) is embedded in the GAIN-B domain, where it adopts a beta-strand conformation. On activation, the Stachel moves into the 7 transmembrane region and adopts a twisted hook-shaped configuration that forms contacts within the receptor, leading to coupling of a G-alpha protein, which activates signaling. The cleaved GAIN-B and N-terminal domains can then dissociate from the rest of the receptor.
Domain organisation. The Stachel sequence (also named stalk) in the C-terminal part of the extracellular domain (ECD) functions as a tethered agonist. In the inactivated receptor, the Stachel sequence (also named stalk) is embedded in the GAIN-B domain, where it adopts a beta-strand conformation. On activation, the Stachel moves into the 7 transmembrane region and adopts a twisted hook-shaped configuration that forms contacts within the receptor, leading to coupling of a G-alpha protein, which activates signaling.
Similarity. Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
RefSeq proteins (3): NP_001291305, NP_001305410, NP_722579 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000203 | GPS | Conserved_site |
| IPR000832 | GPCR_2_secretin-like | Family |
| IPR003910 | GPR1/GPR3/GPR5 | Family |
| IPR017981 | GPCR_2-like_7TM | Domain |
| IPR046338 | GAIN_dom_sf | Homologous_superfamily |
| IPR057244 | GAIN_B | Domain |
Pfam: PF00002, PF01825
UniProt features (56 total): helix 13, topological domain 8, glycosylation site 8, transmembrane region 7, chain 3, disulfide bond 3, sequence conflict 3, turn 3, region of interest 2, mutagenesis site 2, signal peptide 1, domain 1, site 1, strand 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7EQ1 | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IZF4-F1 | 82.51 | 0.42 |
Antibody-complex structures (SAbDab): 1 — 7EQ1
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 226–227 (cleavage; by autolysis)
Disulfide bonds (3): 189–221, 209–223, 314–404
Glycosylation sites (8): 58, 65, 146, 147, 173, 179, 394, 400
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 225 | abolished autoproteolytically processing. |
| 230 | impaired g protein-coupled receptor activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 101 (showing top):
GOBP_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, chr16q21, GOBP_ADENYLATE_CYCLASE_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, ROYLANCE_BREAST_CANCER_16Q_COPY_NUMBER_UP, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GSE13762_CTRL_VS_125_VITAMIND_DAY12_DC_DN, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, LI_INDUCED_T_TO_NATURAL_KILLER_UP, MARTENS_BOUND_BY_PML_RARA_FUSION, WIERENGA_STAT5A_TARGETS_UP, WIERENGA_STAT5A_TARGETS_GROUP1, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, BAKKER_FOXO3_TARGETS_DN, DELACROIX_RAR_BOUND_ES, GSE14699_NAIVE_VS_ACT_CD8_TCELL_DN
GO Biological Process (4): cell surface receptor signaling pathway (GO:0007166), G protein-coupled receptor signaling pathway (GO:0007186), adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0007189), signal transduction (GO:0007165)
GO Molecular Function (2): G protein-coupled receptor activity (GO:0004930), transmembrane signaling receptor activity (GO:0004888)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| signal transduction | 2 |
| G protein-coupled receptor activity | 1 |
| adenylate cyclase-modulating G protein-coupled receptor signaling pathway | 1 |
| adenylate cyclase activator activity | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| transmembrane signaling receptor activity | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| signaling receptor activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
630 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ADGRG5 | ADGRA1 | Q86SQ6 | 639 |
| ADGRG5 | ADGRA3 | Q8IWK6 | 580 |
| ADGRG5 | ADGRD1 | Q6QNK2 | 488 |
| ADGRG5 | RELL1 | Q8IUW5 | 380 |
| ADGRG5 | ADGRG3 | Q86Y34 | 378 |
| ADGRG5 | ADGRF1 | Q5T601 | 378 |
| ADGRG5 | GPR174 | Q9BXC1 | 371 |
| ADGRG5 | ADGRF2P | Q8IZF7 | 367 |
| ADGRG5 | ADGRG4 | Q8IZF6 | 339 |
| ADGRG5 | ADGRV1 | Q8WXG9 | 333 |
| ADGRG5 | ADGRF4 | Q8IZF3 | 332 |
| ADGRG5 | AMDHD1 | Q96NU7 | 317 |
| ADGRG5 | ADGRG7 | Q96K78 | 314 |
| ADGRG5 | ADGRL1 | O94910 | 313 |
| ADGRG5 | SPINK14 | Q6IE38 | 305 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ADGRG5 | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| ADGRG5 | SRPK2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| ADGRG5 | RAMP1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ADGRG5 | RAMP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RAMP3 | ADGRG5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ADGRG5 | RAMP3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ADGRG5 | SLC33A1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (152): LPPR3 (Affinity Capture-MS), TSPAN10 (Affinity Capture-MS), TMEM68 (Affinity Capture-MS), SEC11C (Affinity Capture-MS), GJC1 (Affinity Capture-MS), FZD3 (Affinity Capture-MS), SLC6A6 (Affinity Capture-MS), EPHB3 (Affinity Capture-MS), FZD2 (Affinity Capture-MS), REEP6 (Affinity Capture-MS), TMX4 (Affinity Capture-MS), GPM6B (Affinity Capture-MS), GJA1 (Affinity Capture-MS), BMPR1A (Affinity Capture-MS), GRAMD1B (Affinity Capture-MS)
ESM2 similar proteins: C3VPR6, G1T469, G1T7E7, G1TR84, O00590, O08707, O09027, O14843, O15529, P11609, P11610, P15151, P20701, P20702, P32506, P38570, P46094, P97583, Q13349, Q2Q421, Q2Q426, Q3V0T4, Q3V3Z3, Q50DM5, Q50DM6, Q50DM7, Q50DM8, Q5Y4N8, Q61549, Q6E804, Q6ZSA7, Q7RTX1, Q80T32, Q86Y34, Q8BYC4, Q8IZF4, Q8K209, Q8K3V3, Q8R0T6, Q91ZV8
Diamond homologs: B7ZCC9, C6KFA3, G5ECX0, G5EDW2, O88917, O94910, O97817, O97827, O97831, Q2Q421, Q2Q426, Q3V3Z3, Q50DM5, Q50DM6, Q50DM7, Q50DM8, Q6F3F9, Q6QNK2, Q7SY09, Q80TR1, Q80TS3, Q86SQ3, Q86SQ4, Q86Y34, Q8CJ11, Q8CJ12, Q8IZF4, Q8IZF6, Q8IZP9, Q8JZZ7, Q8K209, Q8SQA4, Q923X1, Q9BY15, Q9ESC1, Q9HAR2, Q9HBW9, Q9HCU4, Q9QYP2, Q9R0M0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
112 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 87 |
| Likely benign | 8 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1869 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:57562158:G:GC | donor_loss | 1.0000 |
| 16:57562159:T:A | donor_loss | 1.0000 |
| 16:57563844:GCAG:G | acceptor_loss | 1.0000 |
| 16:57563846:A:AG | acceptor_gain | 1.0000 |
| 16:57563846:AG:A | acceptor_gain | 1.0000 |
| 16:57563847:G:GG | acceptor_gain | 1.0000 |
| 16:57563847:GG:G | acceptor_gain | 1.0000 |
| 16:57563847:GGCA:G | acceptor_gain | 1.0000 |
| 16:57563976:CAAGG:C | donor_loss | 1.0000 |
| 16:57563978:AG:A | donor_gain | 1.0000 |
| 16:57563979:GG:G | donor_gain | 1.0000 |
| 16:57563980:G:GG | donor_gain | 1.0000 |
| 16:57563980:GTCA:G | donor_loss | 1.0000 |
| 16:57565146:GCCTG:G | donor_gain | 1.0000 |
| 16:57542697:CTCAG:C | donor_loss | 0.9900 |
| 16:57542698:TCAG:T | donor_loss | 0.9900 |
| 16:57542699:CAGG:C | donor_loss | 0.9900 |
| 16:57542700:AGGT:A | donor_loss | 0.9900 |
| 16:57542701:GG:G | donor_loss | 0.9900 |
| 16:57542702:G:GA | donor_loss | 0.9900 |
| 16:57542703:T:G | donor_loss | 0.9900 |
| 16:57562050:TTTCA:T | acceptor_loss | 0.9900 |
| 16:57562051:TTCAG:T | acceptor_loss | 0.9900 |
| 16:57562052:TCAG:T | acceptor_loss | 0.9900 |
| 16:57562054:A:AG | acceptor_gain | 0.9900 |
| 16:57562054:A:C | acceptor_loss | 0.9900 |
| 16:57562054:AG:A | acceptor_gain | 0.9900 |
| 16:57562055:G:GG | acceptor_gain | 0.9900 |
| 16:57562055:G:GT | acceptor_loss | 0.9900 |
| 16:57562055:GG:G | acceptor_gain | 0.9900 |
AlphaMissense
3422 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:57566623:T:C | F191L | 0.995 |
| 16:57566625:C:A | F191L | 0.995 |
| 16:57566625:C:G | F191L | 0.995 |
| 16:57566664:G:C | W204C | 0.995 |
| 16:57566664:G:T | W204C | 0.995 |
| 16:57566737:T:C | F229L | 0.995 |
| 16:57566739:T:A | F229L | 0.995 |
| 16:57566739:T:G | F229L | 0.995 |
| 16:57563888:T:C | F113S | 0.992 |
| 16:57563888:T:G | F113C | 0.991 |
| 16:57566628:G:C | W192C | 0.991 |
| 16:57566628:G:T | W192C | 0.991 |
| 16:57566738:T:G | F229C | 0.991 |
| 16:57566662:T:A | W204R | 0.989 |
| 16:57566662:T:C | W204R | 0.989 |
| 16:57566618:G:A | C189Y | 0.988 |
| 16:57566713:T:A | C221S | 0.987 |
| 16:57566714:G:C | C221S | 0.987 |
| 16:57563942:T:C | L131P | 0.986 |
| 16:57566619:T:G | C189W | 0.985 |
| 16:57566677:T:A | C209S | 0.985 |
| 16:57566678:G:C | C209S | 0.985 |
| 16:57566617:T:C | C189R | 0.983 |
| 16:57566618:G:T | C189F | 0.983 |
| 16:57563200:T:C | F84L | 0.982 |
| 16:57563202:C:A | F84L | 0.982 |
| 16:57563202:C:G | F84L | 0.982 |
| 16:57566617:T:A | C189S | 0.982 |
| 16:57566618:G:C | C189S | 0.982 |
| 16:57566738:T:C | F229S | 0.980 |
dbSNP variants (sampled 300 via entrez): RS1000082475 (16:57545130 T>A), RS1000134873 (16:57544878 C>A), RS1000301749 (16:57557434 T>C), RS1000508089 (16:57564175 T>C), RS1000596782 (16:57551526 G>A), RS1000604063 (16:57570835 C>T), RS1000678885 (16:57529776 A>G), RS1000781336 (16:57535483 T>G), RS1000789890 (16:57575982 C>T), RS1001094172 (16:57546319 T>C), RS1001128871 (16:57529574 C>T), RS1001222119 (16:57575690 G>A), RS1001263544 (16:57544553 G>T), RS1001397821 (16:57540344 T>C), RS1001421050 (16:57550821 A>G)
Disease associations
OMIM: gene MIM:616965 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009066_28 | Mosaic loss of chromosome Y (Y chromosome dosage) | 1.000000e-09 |
| GCST009067_22 | Mosaic loss of chromosome Y (Y chromosome dosage) | 1.000000e-11 |
| GCST90002390_88 | Mean corpuscular hemoglobin | 8.000000e-12 |
| GCST90002392_504 | Mean corpuscular volume | 7.000000e-11 |
| GCST90002396_587 | Mean reticulocyte volume | 1.000000e-10 |
| GCST90002400_179 | Plateletcrit | 3.000000e-11 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007783 | mosaic loss of chromosome Y measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0007985 | platelet crit |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523890 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: gpcr — Adhesion Class GPCRs
CTD chemical–gene interactions
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases methylation, increases mutagenesis | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| aminomethylphosphonic acid (AMPA) | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| ICG 001 | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| 2,4-Dichlorophenoxyacetic Acid | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4883398 | Binding | PRESTO-Tango GPCRome screening (GPR114) | Data for DCP probe UCSF924 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.